Just diagnosed with GM3 synthase deficiency?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees GM3 synthase deficiency, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive GM3 synthase deficiency hub →Overview
GM3 synthase deficiency is a rare condition. Also known as Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome, ST3GAL5-CDG. Tomeko brings together the specialists, research, clinical trials, treatments and community for GM3 synthase deficiency so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:171714 · OMIM 609056 · ICD-10 E77.8 · GARD 0012059
Find care for GM3 synthase deficiency
Authoritative references for GM3 synthase deficiency
Research & market landscape for GM3 synthase deficiency
Following GM3 synthase deficiency for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for GM3 synthase deficiency — the real-world landscape behind the condition, in one place.
- Latest GM3 synthase deficiency research on PubMed ↗
- Recruiting GM3 synthase deficiency trials on ClinicalTrials.gov ↗
- Explore the GM3 synthase deficiency research & specialist footprint on Tomeko
Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for GM3 synthase deficiency and every rare condition. See how Tomeko works with industry →
Common questions
What is GM3 synthase deficiency?
GM3 synthase deficiency is a rare condition. Also known as Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome, ST3GAL5-CDG. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for GM3 synthase deficiency together in one place.
What are the symptoms of GM3 synthase deficiency?
Symptoms of GM3 synthase deficiency vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats GM3 synthase deficiency.
How is GM3 synthase deficiency treated?
Treatment for GM3 synthase deficiency depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see GM3 synthase deficiency, and review current options with them.
What causes GM3 synthase deficiency — is it genetic?
The cause and inheritance of GM3 synthase deficiency are described in the authoritative references linked on this page. A genetics or specialist clinician who treats GM3 synthase deficiency can explain what it means for you and your family.
I was just diagnosed with GM3 synthase deficiency — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees GM3 synthase deficiency, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for GM3 synthase deficiency?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat GM3 synthase deficiency, filtered to your area.
Are there clinical trials for GM3 synthase deficiency?
Tomeko shows live, recruiting studies for GM3 synthase deficiency from ClinicalTrials.gov on the hub.
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